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Disease name : Lesch - Nyhan syndrome
Affected populations : Lesch - Nyhan syndrome is an unbelievably rare genetic disorder that causes metabolic change andmainly bear upon males . Approximately1 in 380,000 babiesborn in the United States are approximate to have the circumstance .
Patients with Lesch-Nyhan syndrome commonly engage in self-injurious acts, such as biting their fingers.
lawsuit : Lesch - Nyhan syndrome is because of mutations in a factor calledHPRT1 . This gene carry instructions for an enzyme that cells use to recycle of import chemical substance chemical compound call purines ; these are found , for instance , in DNAand in particle that interact with enzymes . purine are also present in many foods , such as offal ( harmonium meats ) , poultry and legume .
In patient with Lesch - Nyhan syndrome , the HPRT1 enzyme does n’t run properly due to mutation in its associated factor . Therefore , cells can not recycle purines as they normally would , and awaste product call uric acidconsequently build up in mass ’s blood .
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This microscopic image shows uric acid crystals accumulating in the joints of a patient with gout.
This surplus uric acid alsoclumps into modest stones or crystalsin dissimilar region of the body , including in the roast and kidneys .
For unknown reasons , patients with Lesch - Nyhan syndrome also have abject levels of the chemical messenger dopamine in their brains , compared with citizenry without the condition . Dopamine plays a key role incontrolling movementandprocessing emotions , among other abilities .
The HPRT1 factor is foundon the X chromosome , one of the two sexchromosomesin humans ; females typically have two X chromosome ( XX ) , while males ordinarily have an X and a Y chromosome ( XY ) .
Because females have two 10 chromosomes , if the HPRT1 gene on one of those chromosomes is mutate , the non - mutated interlingual rendition on their other chromosome can effectively even out for it . However , because males have only one X chromosome , if they have a mutant HPRT1 cistron , they will develop Lesch - Nyhan syndrome . That is why the condition almost exclusively regard Male .
Although the syndrome tends to race in families , it can sometimes go on in individuals with no kin history of the condition , due to random mutations that emerge in HPRT1 during gestation .
So far , more than 600 mutant versionsof the HPRT1 gene have been found to be associated with Lesch - Nyhan syndrome .
Symptoms : The main symptom of Lesch - Nyhan syndrome are associated withinflammatory arthritis — a group of conditions driven by the immune system that make joint pain , jut and philia . Specifically , people with the syndrome often have gout .
People may also experience kidney and bladder stones and cognitive handicap . They may have nonvoluntary muscle movements and engross in self - hurtful behaviour , such as lip and finger biting and head banging . These ungovernable behaviour may be force back by theloss of , or wrong to , dopamine neuronsin the brain .
Often , patients need helpwalking and sittingand many require a wheelchair .
Symptoms of Lesch - Nyhan syndrome typically emergebefore a shaver reaches their first birthday .
The main causes of decease in patients with Lesch - Nyhan syndrome are a bacterial infection of the lung calledaspiration pneumoniaand kidney failure . The aspiration pneumonia often happens because affected role developsevere unsay outcome .
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Treatments : There is no cure for Lesch - Nyhan syndrome , but with efficient clinical care , patients can know until around age 40 .
Treatments that can assist handle patients ' symptoms let in muscle relaxants to control involuntary motion , as well as forcible chasteness or teeth origin to discontinue them from injure themselves .
This clause is for informational intention only and is not meant to offer medical advice .
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